| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.3 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes tRNA isopentenyltransferase deficiency |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 5.10 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873, combined oxidative phosphorylation deficiency 35, MONDO:0054742 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 6.13 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873, combined oxidative phosphorylation deficiency 35, MONDO:0054742 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 5.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Combined oxidative phosphorylation deficiency 35, OMIM :617873, combined oxidative phosphorylation deficiency 35, MONDO:0054742 |
Green in Mitochondrial disordersComponent of the following Super Panels:
Signed-off version 6.4 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873, combined oxidative phosphorylation deficiency 35, MONDO:0054742 |
R-numbers: R63 Signed-off version 3.105 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Combined oxidative phosphorylation deficiency 35, OMIM:617873, combined oxidative phosphorylation deficiency 35, MONDO:0054742 |